Table 1 Selected cancer-related genes.
From: Identification of candidate genes for devil facial tumour disease tumourigenesis
Gene | Role in Schwannomas/MPNSTs | Devil Chromosomal location | DFT1 Chromosomal location |
|---|---|---|---|
ATRIP | Component of DNA damage checkpoint | 1p | M1q and M3q |
EGFR | Associated with development of tumours derived from Schwann cells47, 48. | 1p | M1q and M3q |
IGFBP1 | Regulates proliferation, adhesion and survival in schwannomas49. | 1p | M1q and M3q |
CDKN2A | Mutated in 50% of MPNSTs, dysregulating p16INK4A cyclinD1-cyclin-dependent kinase (CDK)4-Retinoblastoma (Rb) and/or p19ARF -Mdm2-p53 cell cycle regulatory pathways50,51,52. | 1q | M1q and M3q |
ICAM1 | Involved in tumour growth and metastatis | 1q | der(2p) and M2q |
TERT | Telomerase lengthens telomeres in DNA strands (chromosomes) allowing senescent cells to become potentially immortal. | 1q | M1q and M3p |
NF2 | Loss of this tumour suppressor is key to the development of most schwannomas28. | 1q* | Region rearranged THAP7 end: der(6q) PES1 end: der (2p) and M2q |
LZTR1 | Loss of this tumour suppressor associated with schwannomas35. | 1q | Rearranged, near breakpoint |
DICER1 | Involved in microRNA biogenesis with perturbations linked to human cancers53 | 2p | 2p, der(2p) Amplification on double minutes in sample 11.3178 |
IGF1R | Frequently amplified in MPNSTs54. | 2p | 2p, der(2p) (unchanged) |
ATMIN | Regulates checkpoint kinase ATM55 | 2q | 2p, der(2p) (unchanged) |
KCNH6 | Expression frequently perturbed in human cancers56 | 4p | 4p, 4p and M4q (copy gain) |
NGF | Promotes neuronal cell survival and differentiation particularly in Schwann cells57. | 4p | 4p, 4p and M4q (copy gain) |
NRAS | Proto-oncogene | 4p | 4p, 4p and M4q (copy gain) |
NF1 | A negative regulator of the ras signalling pathway, often mutated in MPNSTs28. | 4p* | 4p, 4p and M4q (copy gain) |
IGF2R | Involved in multiple cellular processes dysregulated in tumours58 | 4q | 4q, 4q (unchanged) |
TP53 | Regulates the cell cycle and is known as the “guardian of the genome” preventing genomic mutations. Mutated in 75% of MPNSTs36, 52. | 4q | 4q, 4q (unchanged in most samples) 4q, 4q, M1p, M5p (copy gain in sample 06.2109) |
ERBB3 | A member of the epidermal growth factor receptor family and is over expressed in many cancers including schwannommas and MPNSTs. | 5p | 4p, 4p, M4q (copy gain and rearrangement) |
GALNT2 | Associated with tumour invasion | 5p | 4p, 5p, M2p (copy gain and rearrangement) |
IGF1 | Growth factor | 5p | 5p, M2p |
MDM2 | Amplified in a portion of MPNSTs59. | 5p | 5p, M2p |
EGF | Promotes cell migration in MPNSTs39. | 6p | 2p, der(2p) (translocation) |
